地中海贫血基因检测及干预研究进展

Advances thalassemia gene detection and intervention

地中海贫血是一组高度异质性的遗传性溶血性疾病,是由于珠蛋白基因突变,使珠蛋白生物合成受阻、产量不足或缺如所致。地中海贫血是一种可以预防的疾病,地中海贫血基因检测是发现地中海贫血的有效方法,是预防中重型地中海贫血胎儿活产的主要检测方法,本文对地中海贫血基因检测及干预研究进展综述。

Thalassemia is a highly heterogeneous group of hereditary hemolytic disease is due to globin gene mutation, so globin biosynthesis blocked, yield is low or absent due. Thalassemia is a preventable disease, thalassemia thalassemia genetic testing is to find an effective way, is the main way to prevent the detection of fetal thalassemia live births, the paper thalassemia gene detection and intervention research progress.